Canonical Allele Identifier: CA381087480

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220472-C-A
• MyVariant Identifiers: chr11:g.63987944C>A (hg19) ; chr11:g.64220472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220472C>A , CM000673.2:g.64220472C>A	GRCh38
NC_000011.9:g.63987944C>A , CM000673.1:g.63987944C>A	GRCh37
NC_000011.8:g.63744520C>A	NCBI36
NG_016360.1:g.18793C>A , LRG_180:g.18793C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1360C>A	ENSP00000279227.5:p.Leu454Met
ENST00000540554.2:n.2526C>A
ENST00000541252.2:c.808C>A	ENSP00000438885.2:p.Leu270Met
ENST00000541326.6:n.769C>A
ENST00000544997.6:c.1348C>A	ENSP00000445778.2:p.Leu450Met
ENST00000545896.2:c.37C>A	ENSP00000440209.2:p.Leu13Met
ENST00000546255.2:n.1652C>A
ENST00000698845.1:c.*543C>A	ENSP00000513981.1:n.*543C>A
ENST00000698846.1:n.1594C>A
ENST00000698847.1:c.*753C>A	ENSP00000513982.1:n.*753C>A
ENST00000698848.1:n.646C>A
ENST00000698849.1:n.468C>A
ENST00000698850.1:n.1116C>A
ENST00000698852.1:c.1348C>A	ENSP00000513984.1:p.Leu450Met
ENST00000698853.1:c.*577C>A	ENSP00000513985.1:n.*577C>A
ENST00000698854.1:c.*678C>A	ENSP00000513986.1:n.*678C>A
ENST00000698855.1:n.3000C>A
ENST00000698856.1:n.2694C>A
ENST00000698859.1:n.1512C>A
ENST00000698860.1:c.1360C>A	ENSP00000513988.1:p.Leu454Met
ENST00000698861.1:c.1348C>A	ENSP00000513989.1:p.Leu450Met
ENST00000698862.1:c.*644C>A	ENSP00000513990.1:n.*644C>A
ENST00000698863.1:c.1348C>A	ENSP00000513991.1:p.Leu450Met
ENST00000698864.1:n.1563C>A
ENST00000698865.1:c.1369C>A	ENSP00000513992.1:p.Leu457Met
ENST00000698866.1:c.*862C>A	ENSP00000513993.1:n.*862C>A
ENST00000698867.1:n.5323C>A
ENST00000698868.1:c.1213C>A	ENSP00000513994.1:p.Leu405Met
ENST00000698869.1:c.1311+146C>A	ENSP00000513995.1:n.1311+146C>A
ENST00000698870.1:c.1348C>A	ENSP00000513996.1:p.Leu450Met
ENST00000698871.1:n.1871C>A
ENST00000698872.1:c.*137C>A	ENSP00000513997.1:n.*137C>A
ENST00000698873.1:c.*543C>A	ENSP00000513998.1:n.*543C>A
ENST00000698874.1:c.808C>A	ENSP00000513999.1:p.Leu270Met
ENST00000698875.1:n.1208C>A
ENST00000698876.1:n.1396C>A
ENST00000698877.1:n.916C>A
ENST00000698878.1:c.1342C>A	ENSP00000514000.1:p.Leu448Met
ENST00000698880.1:c.1216C>A
ENST00000345728.10:c.1348C>A MANE Select	ENSP00000339950.5:p.Leu450Met
ENST00000279227.9:c.1360C>A	ENSP00000279227.5:p.Leu454Met
ENST00000345728.9:c.1348C>A	ENSP00000339950.5:p.Leu450Met
ENST00000541326.5:n.764C>A
ENST00000545896.1:c.36C>A	ENSP00000440209.1:p.Ala12=
NM_031471.5:c.1348C>A	NP_113659.3:p.Leu450Met
NM_178443.2:c.1360C>A , LRG_180t1:c.1360C>A	NP_848537.1:p.Leu454Met
XM_011545294.1:c.1360C>A	XP_011543596.1:p.Leu454Met
XM_011545295.1:c.820C>A	XP_011543597.1:p.Leu274Met
XM_011545296.1:c.820C>A	XP_011543598.1:p.Leu274Met
XM_011545294.3:c.1360C>A	XP_011543596.1:p.Leu454Met
XM_011545295.2:c.820C>A	XP_011543597.1:p.Leu274Met
XM_017018398.2:c.1348C>A	XP_016873887.1:p.Leu450Met
XM_017018399.1:c.808C>A	XP_016873888.1:p.Leu270Met
NM_031471.6:c.1348C>A MANE Select	NP_113659.3:p.Leu450Met
NM_001382361.1:c.1348C>A	NP_001369290.1:p.Leu450Met
NM_001382362.1:c.1360C>A	NP_001369291.1:p.Leu454Met
NM_001382363.1:c.808C>A	NP_001369292.1:p.Leu270Met
NM_001382364.1:c.820C>A	NP_001369293.1:p.Leu274Met
NM_001382448.1:c.1348C>A	NP_001369377.1:p.Leu450Met
NM_178443.3:c.1360C>A	NP_848537.1:p.Leu454Met